TTN c.83060_83062del ;(p.L27687del)

Variant ID: 2-179427796-CGCA-C

NM_001267550.1(TTN):c.83060_83062del;(p.L27687del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.

European Journal Of Human Genetics : Ejhg
Mates, Jesus J; Mademont-Soler, Irene I; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Coll, Monica M; Pérez-Serra, Alexandra A; Picó, Ferran F; Allegue, Catarina C; Fernandez-Falgueras, Anna A; Álvarez, Patricia P; Yotti, Raquel R; Espinosa, Maria Angeles MA; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Carro, Ester E; Brugada, Josep J; Arbelo, Elena E; Garcia-Pavia, Pablo P; Borregan, Mar M; Tizzano, Eduardo E; López-Granados, Amador A; Mazuelos, Francisco F; Díaz de Bustamante, Aranzazu A; Darnaude, Maria Teresa MT; González-Hevia, José Ignacio JI; Díaz-Flores, Felícitas F; Trujillo, Francisco F; Iglesias, Anna A; Fernandez-Aviles, Francisco F; Campuzano, Oscar O; Brugada, Ramon R
Publication Date: 2018-07

Variant appearance in text: TTN: 83060_83062del
PubMed Link: 29511324
Variant Present in the following documents:
  • Main text
View BVdb publication page